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Article

Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.

PloS one - 1 Jan 2014

Caleca Laura, Putignano Anna Laura, Colombo Mara, Congregati Caterina, Sarkar Mohosin, Magliery Thomas J, Ripamonti Carla B, Foglia Claudia, Peissel Bernard, Zaffaroni Daniela, Manoukian Siranoush, Tondini Carlo, Barile Monica, Pensotti Valeria, Bernard Loris, Papi Laura, Radice Paolo

Abstract excerpt

The identification of founder mutations in cancer predisposing genes is important to improve risk assessment in geographically defined populations, since it may provide specific targets resulting in cost-effective genetic testing. Here, we report the characterization of the BRCA1 c.190T>C (p.Cys64Arg) mutation, mapped to the RING-finger domain coding region, that we detected in 43 hereditary breast/ovarian cancer...

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Identifiers

PMID: 24516540
DOI: 10.1371/journal.pone.0086924
PMCID: PMC3916327

Genes

BRCA1
BARD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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